AEC SYNDROME

By Gary M. White, MD


Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome appears to be a genodermatosis characterized by anomalous embryonic development of ectodermal tissues. There is evidence that AEC syndrome is caused by mutations in the TP63 gene, which encodes the p63 protein.

Clinical

Denuded skin at birth and chronic scalp erosions complicated by infection are characteristic of this syndrome.

Treatment

A bath to remove crust, local antibiotics (e.g., mupirocin), and vaseline gauze are helpful for scalp erosions. A referral to ophthalmology and plastic surgery to repair any clefting are important.

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